Canonical Allele Identifier: CA2013431424
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677572
ClinVar RCV Id: RCV002224314 RCV002487017
dbSNP Id: rs1565466174
gnomAD v4: 12-5045845-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045851dup , CM000674.2:g.5045851dup GRCh38
NC_000012.11:g.5155017dup , CM000674.1:g.5155017dup GRCh37
NC_000012.10:g.5025278dup NCBI36
NG_012198.1:g.6933dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1704dup MANE Select ENSP00000252321.3:p.Thr569AspfsTer19
ENST00000252321.4:c.1704dup ENSP00000252321.3:p.Thr569AspfsTer19
NM_002234.3:c.1704dup NP_002225.2:p.Thr569AspfsTer19
NM_002234.4:c.1704dup MANE Select NP_002225.2:p.Thr569AspfsTer19
Search 100 bp 5'
Search 100 bp 3'